ABSTRACT
Cowden syndrome (CS) is an autosomal dominant disorder characterized by presence of multiple hamartomas, and other benign and malignant abnormalities of the breasts, skin, thyroid, endometrium, gastrointestinal tract, and central nervous system. Hamartomas are benign, developmentally disorganized tumors that can develop in any of the above mentioned organs. The presence of massive calcifications in the breasts in very young women is an indication to perform a breast MRI to exclude a neoplasm since, like in the current case report, presence of breast calcifications may obscure a neoplasm. Although fibrocystic disease and cooccurrence of fibrocystic disease and breast cancer are much more common than CS, the presence of massive calcifications in the breasts of very young women should elicit the possibility of an underlying genetic disease. Furthermore, breast cancer and macrocephaly are considered major criteria for the diagnosis of CS and the combination of both is enough to establish the clinical diagnosis of this entity. Fibrocystic disease of the breasts and multinodular goiter are minor criteria. Family history is also important for the diagnosis of (any) hereditary disease.
ABSTRACT
OBJECTIVES: Visual inspection is generally used to assess breast density. Our study aim was to compare visual assessment of breast density of experienced and inexperienced readers with semi-automated analysis of breast density. METHODS: Breast density was assessed by an experienced and an inexperienced reader in 200 mammograms and scored according to the quantitative BI-RADS classification. Breast density was also assessed by dedicated software using a semi-automated thresholding technique. Agreement between breast density classification of both readers as well as agreement between their assessment versus the semi-automated analysis as reference standard was expressed as the weighted kappa value. RESULTS: Using the semi-automated analysis, agreement between breast density measurements of both breasts in both projections was excellent (ICC >0.9, P < 0.0001). Reproducibility of the semi-automated analysis was excellent (ICC >0.8, P < 0.0001). The experienced reader correctly classified the BI-RADS breast density classification in 58.5% of the cases. Classification was overestimated in 35.5% of the cases and underestimated in 6.0% of the cases. Results of the inexperienced reader were less accurate. Agreement between the classification of both readers versus the semi-automated analysis was considered only moderate with weighted kappa values of 0.367 (experienced reader) and 0.232 (inexperienced reader). CONCLUSION: Visual assessment of breast density on mammograms is inaccurate and observer-dependent.
ABSTRACT
Breast cancer is the most common cancer in women. One in 8 women develops breast cancer and approximately 30% of all affected women die of the disease. By performing a nationwide screening program in the Netherlands, a mortality reduction of 1.2% annually was achieved. The screening program is for women between the ages of 50 and 75 years; however, women with an increased risk for developing breast cancer are mostly younger. The role of MRI in this particular group of women has been described in different studies. MRI of the breast in this group of women has a higher sensitivity than mammography, but the highest sensitivity is reached by the combination of these two imaging modalities.
Subject(s)
Breast Neoplasms/diagnosis , Magnetic Resonance Imaging , Adult , Aged , BRCA1 Protein/genetics , BRCA2 Protein/genetics , Breast Neoplasms/genetics , Breast Neoplasms/prevention & control , Female , Genetic Counseling , Genetic Predisposition to Disease , Humans , Mass Screening , Middle Aged , Mutation , Risk FactorsABSTRACT
Breast cancer is the most common cancer in women. One in 8 women develops breast cancer and approximately 30% of all affected women die of the disease. By performing a nationwide screening program in the Netherlands, a mortality reduction of 1.2% annually was achieved. The screening program is for women between the ages of 50 and 75 years; however, women with an increased risk for developing breast cancer are mostly younger. The role of MRI in this particular group of women has been described in different studies. MRI of the breast in this group of women has a higher sensitivity than mammography, but the highest sensitivity is reached by the combination of these two imaging modalities.
Subject(s)
Breast Neoplasms/diagnosis , Magnetic Resonance Imaging , Mass Screening , Aged , Breast Neoplasms/genetics , Dermatitis, Contact , Female , Genes, BRCA1 , Genes, BRCA2 , Humans , Middle Aged , Mutation , Risk Assessment , Risk FactorsABSTRACT
Re-excision rates after breast conserving surgery(BCS) of invasive lobular carcinoma (ILC) are high.Preoperative breast MRI has the potential to reduce re-excision rates, but may lead to an increased rate of mastectomies. Hence, we assessed the influence of preoperative breast MRI on the re-excision rate and the rate of mastectomies. We performed a retrospective cohort study of a consecutive series of patients with ILC who presented in one of two dedicated tertiary cancer centers between 1993 and 2005. We assessed the initial type of surgery(BCS or mastectomy), the re-excision rate and the final type of surgery. Patients were stratified into two groups:those who received preoperative MRI (MR? group) and those who did not (MR- group). In the MR- group, 27%of the patients underwent a re-excision after initial BCS. In the MR? group, this rate was significantly lower at 9%.The odds ratio was 3.64 (95% CI: 1.30-10.20, P = 0.010).There was a trend towards a lower final mastectomy rate in the MR? group compared to the MR- group (48 vs. 59%,P = 0.098). In conclusion, preoperative MRI in patients with ILC can reduce re-excision rates without increasing the rate of mastectomies.
Subject(s)
Breast Neoplasms/pathology , Breast Neoplasms/surgery , Carcinoma, Lobular/pathology , Carcinoma, Lobular/surgery , Magnetic Resonance Imaging , Mastectomy, Segmental , Mastectomy , Adult , Aged , Aged, 80 and over , Female , Humans , Middle Aged , Neoplasm Invasiveness , Netherlands , Odds Ratio , Predictive Value of Tests , Preoperative Care , Reoperation , Retrospective Studies , Risk Assessment , Time Factors , Treatment OutcomeABSTRACT
PURPOSE: To evaluate the additional value of the color coding of dynamic data using the 3TP method in the evaluation of contrast-enhanced breast MRI for readers with different levels of experience. MATERIALS AND METHODS: A total of 52 lesions were included in this study, 25 malignant and 27 benign. All lesions were evaluated by four readers on two different workstations for the evaluation of dynamic breast MRI; one displaying the subtracted images and relative enhancement versus time curves and one displaying the subtracted images together with the 3TP color coding projected onto pre-contrast T1 images. Readers with different levels of experience were used. The diagnostic performance of both workstations was evaluated using ROC curve analyses. Interobserver variations were evaluated using kappa statistics. RESULTS: All lesions were detected by all four readers on both workstations. The diagnostic performance found in the inexperienced readers improved significantly when using the 3TP evaluations (p=0.04 and p=0.03). No significant difference was found for the more experienced readers (p=0.94 and p=0.54). The level of agreement between the readers improved significantly when using the 3TP evaluation method (p=0.01). CONCLUSION: Even though the 3TP color coding did not improve the diagnostic performance of the more experienced readers, this study clearly shows its value for inexperienced readers. The use of 3TP color coding is therefore recommended for inexperienced readers.
Subject(s)
Breast Neoplasms/diagnosis , Color , Image Enhancement/methods , Magnetic Resonance Imaging/methods , Meglumine , Organometallic Compounds , Contrast Media , Female , Humans , Observer Variation , Professional Competence , Reproducibility of Results , Sensitivity and SpecificitySubject(s)
Antineoplastic Combined Chemotherapy Protocols/administration & dosage , Hematopoietic Stem Cell Transplantation , Rhabdomyosarcoma/therapy , Child , Combined Modality Therapy , Female , Humans , Neoplasm Metastasis , Remission Induction , Rhabdomyosarcoma/drug therapy , Rhabdomyosarcoma/pathology , Rhabdomyosarcoma/surgery , Transplantation ConditioningABSTRACT
The value of pharmacokinetic parameters derived from fast dynamic imaging during initial enhancement in characterizing breast lesions on magnetic resonance imaging (MRI) was evaluated. Sixty-eight malignant and 34 benign lesions were included. In the scanning protocol, high temporal resolution imaging was combined with high spatial resolution imaging. The high temporal resolution images were recorded every 4.1 s during initial enhancement (fast dynamic analysis). The high spatial resolution images were recorded at a temporal resolution of 86 s (slow dynamic analysis). In the fast dynamic evaluation pharmacokinetic parameters (K(trans), V(e) and k(ep)) were evaluated. In the slow dynamic analysis, each lesion was scored according to the BI-RADS classification. Two readers evaluated all data prospectively. ROC and multivariate analysis were performed. The slow dynamic analysis resulted in an AUC of 0.85 and 0.83, respectively. The fast dynamic analysis resulted in an AUC of 0.83 in both readers. The combination of both the slow and fast dynamic analyses resulted in a significant improvement of diagnostic performance with an AUC of 0.93 and 0.90 (P = 0.02). The increased diagnostic performance found when combining both methods demonstrates the additional value of our method in further improving the diagnostic performance of breast MRI.
Subject(s)
Breast Neoplasms/pathology , Contrast Media/pharmacokinetics , Image Interpretation, Computer-Assisted/methods , Magnetic Resonance Imaging/methods , Meglumine/pharmacokinetics , Organometallic Compounds/pharmacokinetics , Adult , Aged , Area Under Curve , Diagnosis, Differential , Female , Humans , Image Enhancement/methods , Middle Aged , Prospective Studies , ROC CurveABSTRACT
The appearance of malignant lesions in BRCA1 and BRCA2 mutation carriers (BRCA-MCs) on mammography and magnetic resonance imaging (MRI) was evaluated. Thus, 29 BRCA-MCs with breast cancer were retrospectively evaluated and the results compared with an age, tumor size and tumor type matched control group of 29 sporadic breast cancer cases. Detection rates on both modalities were evaluated. Tumors were analyzed on morphology, density (mammography), enhancement pattern and kinetics (MRI). Overall detection was significantly better with MRI than with mammography (55/58 vs 44/57, P=0.021). On mammography, lesions in the BRCA-MC group were significantly more described as rounded (12//19 vs 3/13, P=0.036) and with sharp margins (9/19 vs 1/13, P=0.024). On MRI lesions in the BRCA-MC group were significantly more described as rounded (16/27 vs 7/28, P=0.010), with sharp margins (20/27 vs 7/28, P<0.001) and with rim enhancement (7/27 vs 1/28, P=0.025). No significant difference was found for enhancement kinetics (P=0.667). Malignant lesions in BRCA-MC frequently have morphological characteristics commonly seen in benign lesions, like a rounded shape or sharp margins. This applies for both mammography and MRI. However the possibility of MRI to evaluate the enhancement pattern and kinetics enables the detection of characteristics suggestive for a malignancy.
Subject(s)
Breast Neoplasms/genetics , Breast Neoplasms/pathology , Genes, BRCA1 , Genes, BRCA2 , Magnetic Resonance Imaging , Adult , Case-Control Studies , Contrast Media , False Negative Reactions , Female , Gadolinium DTPA , Humans , Image Processing, Computer-Assisted , Mammography , Mutation , Retrospective StudiesABSTRACT
AIMS: Invasive lobular carcinoma of the breast (ILC) is known to be substantially underestimated by mammography, which makes correct planning of treatment difficult. MRI has been proposed as a valuable adjunct to mammography. The purpose of the current study is to evaluate its value, compare it to mammography and assess the possible causes of over- and underestimation of lesion size on MRI. METHOD: The mammograms and MRI scans of 67 consecutive patients with ILC were retrieved and re-evaluated. Size measurements were correlated to the sizes extracted from the pathology report. RESULTS: MRI measurements correlated better to pathologic size (r=0.85) than mammographic measurements (r=0.27). Underestimation of tumour size was more common on mammography (p<0.001); overestimation occurred with equal frequency (p=0.69). Overestimation on MRI, caused by non-malignant findings, was attributed to enhancing lobular carcinoma in situ. CONCLUSION: MRI is a more accurate modality for determining tumour size in patients with ILC than mammography. The typical underestimation of lesion size by mammography can be prevented with the aid of MRI, without increasing the risk of lesion overestimation.
Subject(s)
Breast Neoplasms/diagnostic imaging , Breast Neoplasms/pathology , Carcinoma, Lobular/diagnostic imaging , Carcinoma, Lobular/pathology , Magnetic Resonance Imaging/methods , Mammography/methods , Adult , Aged , Biopsy, Needle , Evaluation Studies as Topic , Female , Follow-Up Studies , Humans , Immunohistochemistry , Middle Aged , Neoplasm Invasiveness/pathology , Neoplasm Staging , Probability , Registries , Retrospective Studies , Sensitivity and SpecificityABSTRACT
PURPOSE: To assess the false-positive rate of breast cancer surveillance by magnetic resonance imaging (MRI) in BRCA mutation carriers and the impact of an abnormal mammography or breast MRI on the patients' decision for prophylactic mastectomy. PATIENTS AND METHODS: A total of 196 BRCA mutation carriers were included with a median follow-up of 2 years (range 1-9) with annual mammography and MRI. Preference for prophylactic mastectomy was registered at first surveillance after the mutation carriership was revealed. RESULTS: In all, 41% (81 of 196) of the women had at least one positive MRI or mammography. Malignancy was detected in 17 women: 11 at surveillance, 4 at an intended prophylactic mastectomy and 2 had an interval cancer. Imaging by mammography and MRI had a sensitivity of 71% and a specificity of 90%. The probability that a positive MRI result is false positive was 83%. In the group with a prior preference for mastectomy with and without a false-positive imaging, prophylactic mastectomy was carried out in 89% and 66%, respectively (P = 0.06), in the group with prior preference for surveillance these percentages were 15% and 11%, respectively (P = 0.47). CONCLUSION: Although the rate of false-positive MRI results is high, the impact on the choice for prophylactic mastectomy is limited and is determined by the woman's preference before the establishment of a BRCA mutation.
Subject(s)
Breast Neoplasms/pathology , Breast Neoplasms/prevention & control , Genes, BRCA1 , Genes, BRCA2 , Magnetic Resonance Imaging , Mastectomy , Mutation , Primary Prevention/methods , Adult , Aged , Breast Neoplasms/genetics , Breast Neoplasms/surgery , Carcinoma, Ductal, Breast/pathology , Carcinoma, Ductal, Breast/prevention & control , Carcinoma, Intraductal, Noninfiltrating/pathology , Carcinoma, Intraductal, Noninfiltrating/prevention & control , Choice Behavior , False Positive Reactions , Female , Humans , Middle Aged , Ovariectomy , Population Surveillance/methodsABSTRACT
A case of broncholithiasis in a child is reported. To our knowledge, it has not been reported in children. Broncholithiasis is a condition in which a peribronchial calcified lymph node erodes into or distorts an adjacent bronchus. Symptoms of broncholithiasis include cough, recurrent episodes of fever, haemoptysis, and purulent sputum. The most common cause of broncholithiasis is Mycobacterium tuberculosis (M. tuberculosis). Here we describe a 14-year-old boy known to have disseminated Mycobacterium kansasii (M. kansasii) infection associated with hypoplastic myelodysplastic syndrome (MDS). He was presented with cough and fever. Computed tomography (CT) and bronchoscopy revealed a large calcified mass eroding in the right main bronchus. While surgical therapy was considered, haemoptysis developed and his condition deteriorated. Bone marrow puncture revealed acute myeloid leukemic transformation of the MDS. Curation was no longer possible. Post mortem examination revealed a large bronchiolith, evolving from a calcified lymph node.
Subject(s)
Bronchial Diseases/diagnosis , Bronchial Diseases/etiology , Immunocompromised Host , Lithiasis/diagnosis , Lithiasis/etiology , Mycobacterium Infections, Nontuberculous/complications , Mycobacterium kansasii , Adolescent , Fatal Outcome , Humans , Male , Myelodysplastic Syndromes/complications , Myelodysplastic Syndromes/immunologyABSTRACT
Two women, aged 57 and 55 years, with metastatic breast cancer were admitted for uncontrolled pain due to bone metastases. Despite the fact that progressive disease was evident, a change in antitumour therapy had not been recommended. The pain control was optimised in both patients. In one patient, palliative chemotherapy was installed, combined with trastuzumab because of HER2/neu overexpression. She was still alive after one and a half year of treatment. The other patient could not adjust mentally to the fact that her palliative therapy was changed to antitumour therapy; she died one month later. It is important to be aware of the various kinds of therapy in metastatic breast cancer because palliative treatment is more than just symptomatic treatment. Systemic antitumour therapy includes hormone therapy, chemotherapy and targeted therapy. Furthermore, in patients with bone metastases, radiotherapy combined with bisphosphonates results in pain relief and can reduce skeletal complications. Because of the ensuing complexity of the treatment of metastatic breast cancer, these patients should be regularly managed by a breast-cancer care team in order to improve the quality of care.
Subject(s)
Bone Neoplasms/secondary , Breast Neoplasms/pathology , Pain , Palliative Care/methods , Quality of Health Care , Bone Neoplasms/complications , Bone Neoplasms/therapy , Breast Neoplasms/complications , Breast Neoplasms/therapy , Female , Humans , Middle Aged , Netherlands , Pain/etiology , Pain ManagementABSTRACT
In the MRISC study, women with an inherited risk for breast cancer were screened by a 6-month clinical breast examination (CBE) and yearly MRI and mammography. We found that the MRISC screening scheme could facilitate early breast cancer diagnosis and that MRI was a more sensitive screening method than mammography, but less specific. In the current study we investigated the contribution of MRI in the early detection of breast cancer in relation to tumor characteristics. From November 1999 to October 2003, 1909 women were included and 50 breast cancers were detected, of which 45 were evaluable and included in the current study. We compared the characteristics of tumors detected by MRI-only with those of all other (non-palpable) screen-detected tumors. Further, we compared the sensitivity of mammography and MRI within subgroups according to different tumor characteristics. Twenty-two (49%) of the 45 breast cancers were detected by MRI and not visible at mammography, of which 20 (44%) were also not palpable (MRI-only detected tumors). MRI-only detected tumors were more often node-negative than other screen-detected cancers (94 vs. 59%; P=0.02) and tended to be more often Subject(s)
Breast Neoplasms/diagnostic imaging
, Mass Screening/methods
, Breast Neoplasms/genetics
, Breast Neoplasms/pathology
, Early Diagnosis
, Female
, Genetic Predisposition to Disease
, Humans
, Magnetic Resonance Imaging
, Mammography
, Sensitivity and Specificity
ABSTRACT
In some women, the density of breast tissue is a limiting factor in the detection of early-stage breast cancer by palpation and mammography. This is the case in young women, for example. MRI sensitivity is not influenced by tissue density. For this reason, it would appear that young women with a genetic or familial predisposition to breast cancer would benefit from MRI screening. A series of prospective studies has shown that the sensitivity of MRI is almost twice that of mammography in these women. As a result, the disease stage in those patients screened by MRI is lower than in the patients screened by a different method. In well-defined groups MRI of the breasts may be an important additional screening tool in women at increased risk of breast cancer.
Subject(s)
Breast Neoplasms/diagnosis , Magnetic Resonance Imaging/methods , Age Factors , Breast Neoplasms/diagnostic imaging , Breast Neoplasms/pathology , Female , Genetic Predisposition to Disease , Humans , Mammography/methods , Mass Screening , Risk Factors , Sensitivity and SpecificityABSTRACT
PURPOSE: To assess the occurrence of high-risk epithelial lesions in women of breast cancer families with and without a BRCA mutation. PATIENTS AND METHODS: Prospective study of women at very high risk of breast cancer undergoing prophylactic mastectomy (68 BRCA1 mutation carriers, 14 BRCA2 mutation carriers and 24 non-BRCA mutation carriers). RESULTS: The prevalence of high-risk lesions is equal in women with a BRCA1 or a BRCA2 mutation, but is higher in non-BRCA mutation carriers: all lesions 43% versus 71% (p=0.02), atypical lobular hyperplasia 26% versus 67% (p=0.001), atypical ductal hyperplasia 17% versus 42% (p=0.01), lobular carcinoma-in situ 15% versus 29% (p=0.10) and ductal carcinoma-in situ 9% versus 17% (p=0.25). The presence of high-risk lesions is related to absence of a BRCA mutation and to age over 40 years. CONCLUSION: Women with an autosomal dominant family history for breast cancer, with and without a BRCA mutation are prone to develop high-risk epithelial lesions, especially over 40 years.
Subject(s)
Breast Neoplasms/genetics , Genes, BRCA1 , Genes, BRCA2 , Adult , Breast Neoplasms/pathology , Breast Neoplasms/surgery , Female , Genetic Predisposition to Disease , Humans , Mastectomy , Middle Aged , Mutation/genetics , Prospective Studies , Risk FactorsABSTRACT
Diagnosis of colonic duplication can pose a potential problem even for those familiar with gastro-intestinal tract duplications in general but unaware of the condition due to its rarity and its apparently bimodal clinical presentation. In this report of five cases of surgically proven pediatric colonic duplication, we illustrate how the condition manifests clinically and describe the imaging features in an attempt to illustrate this bimodal presentation of the condition. The possible etiology, associated congenital anomalies and modes of clinical presentation are reviewed based on literature review as well as on our own experience.
Subject(s)
Colon/abnormalities , Abnormalities, Multiple , Barium Sulfate , Child, Preschool , Colon/diagnostic imaging , Colon/surgery , Contrast Media , Enema , Female , Humans , Infant, Newborn , Male , Retrospective Studies , Tomography, X-Ray ComputedABSTRACT
The subject of malrotation in infants and children without other congenital anatomical abnormalities is reviewed from the perspective of experience with 97 patients operated in 11 years. Fifty-five patients were younger than 6 weeks at operation. They often presented with bilious vomiting, in contrast to older children who presented with non-bilious vomiting or feeding problems. Patients younger than 6 weeks were operated more often acutely than older patients. Volvulus was more common in infants younger than 6 weeks. Two patients with a resulting short bowel syndrome died. In 73 of the surviving 95 (76.8%) children their symptoms disappeared. In the children younger than 6 weeks persisting abdominal problems were significantly less frequent than in older children. In the children presenting with proven gastro-esophageal reflux disease before the malrotation operation, abdominal problems persisted significantly more often. Although there remains considerable controversy over how older children without signs of vascular problems should be managed, failure to respond to radiographic evidence of malrotation could be considered malpractice if volvulus was to occur subsequently. For this reason, every patient with a radiological proven malrotation merits diagnostic laparoscopy.